Incidental Mutation 'IGL02393:Cdkl4'
ID293884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdkl4
Ensembl Gene ENSMUSG00000033966
Gene Namecyclin-dependent kinase-like 4
SynonymsLOC381113
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02393
Quality Score
Status
Chromosome17
Chromosomal Location80523550-80563834 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80560415 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 35 (F35L)
Ref Sequence ENSEMBL: ENSMUSP00000083732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086545]
Predicted Effect probably damaging
Transcript: ENSMUST00000086545
AA Change: F35L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083732
Gene: ENSMUSG00000033966
AA Change: F35L

DomainStartEndE-ValueType
S_TKc 4 286 6.65e-102 SMART
low complexity region 295 307 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,687,368 I253M probably damaging Het
Adam32 A T 8: 24,920,053 Y129N probably damaging Het
Afap1l2 T C 19: 56,914,440 K695R probably damaging Het
Arhgap18 T G 10: 26,877,183 S357R probably benign Het
Camsap1 T C 2: 25,938,322 H1130R probably benign Het
Crnn A G 3: 93,149,368 H487R probably damaging Het
Dcaf4 C T 12: 83,530,031 P95L probably damaging Het
Deaf1 A T 7: 141,313,333 V382E possibly damaging Het
Dph7 T G 2: 24,966,597 V187G possibly damaging Het
Fat3 G T 9: 15,988,412 C3108* probably null Het
Ggt5 T C 10: 75,610,237 probably benign Het
Kif26a G A 12: 112,172,664 V396M probably damaging Het
Med17 G A 9: 15,277,667 R101* probably null Het
Mterf4 C T 1: 93,302,879 V182I possibly damaging Het
Nsg1 T C 5: 38,158,911 D32G probably damaging Het
Olfr175-ps1 A G 16: 58,824,046 I221T probably damaging Het
Olfr788 T C 10: 129,473,195 S168P probably damaging Het
Olfr808 T A 10: 129,767,793 V99E probably benign Het
P3h2 T C 16: 25,992,825 Y216C probably damaging Het
Pdzd9 A C 7: 120,662,983 Y85* probably null Het
Prkdc T A 16: 15,816,758 V3589D probably benign Het
Qars A G 9: 108,514,329 T26A probably benign Het
Rhd T C 4: 134,884,095 S189P probably benign Het
Rhobtb1 A T 10: 69,288,987 H555L probably damaging Het
Rogdi G A 16: 5,009,224 S306F probably benign Het
Slc25a25 C T 2: 32,417,843 V259I probably benign Het
Srrm1 A T 4: 135,321,414 probably benign Het
Stkld1 T C 2: 26,950,142 V408A probably benign Het
Thbs1 T C 2: 118,123,099 V999A possibly damaging Het
Tmprss11d T A 5: 86,303,612 *280L probably null Het
Trim54 A G 5: 31,131,980 probably benign Het
Tspear G A 10: 77,836,573 R202H probably damaging Het
Vwa8 G A 14: 79,182,977 G1706D probably damaging Het
Other mutations in Cdkl4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Cdkl4 APN 17 80525276 utr 3 prime probably benign
IGL01752:Cdkl4 APN 17 80543614 splice site probably benign
IGL02000:Cdkl4 APN 17 80543763 missense probably damaging 1.00
R0047:Cdkl4 UTSW 17 80550845 missense probably benign 0.10
R0507:Cdkl4 UTSW 17 80543808 missense probably benign 0.06
R1555:Cdkl4 UTSW 17 80543614 splice site probably benign
R1623:Cdkl4 UTSW 17 80556302 splice site probably null
R2007:Cdkl4 UTSW 17 80556301 splice site probably benign
R4701:Cdkl4 UTSW 17 80543652 missense probably damaging 0.97
R4975:Cdkl4 UTSW 17 80525335 nonsense probably null
R5246:Cdkl4 UTSW 17 80539484 intron probably null
R5708:Cdkl4 UTSW 17 80539522 missense possibly damaging 0.94
R5914:Cdkl4 UTSW 17 80547691 critical splice donor site probably null
R6464:Cdkl4 UTSW 17 80525352 missense probably benign 0.00
R6882:Cdkl4 UTSW 17 80543746 missense probably damaging 0.99
R7176:Cdkl4 UTSW 17 80543792 nonsense probably null
R7582:Cdkl4 UTSW 17 80533835 missense probably benign 0.42
Z1177:Cdkl4 UTSW 17 80550858 missense probably damaging 0.98
Posted On2015-04-16